Article
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.
Neuromuscular disorders : NMD - 1 Jun 2017
Donkervoort Sandra, Chan Sophelia H S, Hayes Leslie H, Bradley Nathaniel, Nguyen David, Leach Meganne E, Mohassel Payam, Hu Ying, Thangarajh Mathula, Bharucha-Goebel Diana, Kan Amanda, Ho Ronnie S L, Reyes Christine A, Nance Jessica, Moore Steven A, Foley A Reghan, Bönnemann Carsten G
Abstract excerpt
Mutations in ACTA1 cause a group of myopathies with expanding clinical and histopathological heterogeneity. We describe three patients with severe ACTA1-related myopathy who have muscle fiber cytoplasmic bodies but no classic nemaline rods. Patient 1 is a five-year-old boy who presented at birth with severe weakness and respiratory failure, requiring mechanical ventilation. Whole exome sequencing identified a...
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